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De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, Rizza T, Bellacchio E, Legati A, Palermo C, Marchet S, Lamperti C, Novelli A, Mercuri EM, Bertini ES, Pane M, Ghezzi D, Carrozzo R. Berti B, et al. Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
The determinants of positivization of anterior T-wave inversion in children.
Anselmi F, Cangiano N, Fusi C, Berti B, Franchini A, Focardi M, Cameli M, Capitani M, Bonifazi M, Mondillo S, D'Ascenzi F. Anselmi F, et al. Among authors: berti b. J Sports Med Phys Fitness. 2021 Nov;61(11):1548-1554. doi: 10.23736/S0022-4707.20.11874-7. Epub 2020 Dec 11. J Sports Med Phys Fitness. 2021. PMID: 33305549
An observational study of functional abilities in infants, children, and adults with type 1 SMA.
Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Danilo Tiziano F, Mercuri E; Italian EAP Working Group. Pane M, et al. Neurology. 2018 Aug 21;91(8):e696-e703. doi: 10.1212/WNL.0000000000006050. Epub 2018 Jul 25. Neurology. 2018. PMID: 30045959 Free PMC article.
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Pane M, Coratti G, Sansone VA, Messina S, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Bravetti C, Berti B, Brigati G, Tacchetti P, Salmin F, de Sanctis R, Lucibello S, Piastra M, Genovese O, Bertini E, Vita G, Tiziano FD, Mercuri E; Italian Expanded Access Program Working Group. Pane M, et al. Among authors: berti b. Ann Neurol. 2019 Sep;86(3):443-451. doi: 10.1002/ana.25533. Epub 2019 Jul 8. Ann Neurol. 2019. PMID: 31228281
Development of an academic disease registry for spinal muscular atrophy.
Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F; iSMAC Group. Mercuri E, et al. Neuromuscul Disord. 2019 Oct;29(10):794-799. doi: 10.1016/j.nmd.2019.08.014. Epub 2019 Aug 29. Neuromuscul Disord. 2019. PMID: 31558335
Hypoglycaemia in patients with type 1 SMA: an underdiagnosed problem?
Berti B, Onesimo R, Leone D, Palermo C, Giorgio V, Buonsenso D, Pane M, Mercuri E. Berti B, et al. Arch Dis Child. 2020 Jul;105(7):707. doi: 10.1136/archdischild-2019-318120. Epub 2019 Dec 20. Arch Dis Child. 2020. PMID: 31862697 No abstract available.
57 results